LOCUS       NM_004352               2442 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens cerebellin 1 precursor (CBLN1), mRNA.
ACCESSION   NM_004352
VERSION     NM_004352.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2442)
  AUTHORS   Iwanicki,T., Balcerzyk,A., Kazek,B., Emich-Widera,E., Likus,W.,
            Iwanicka,J., Kapinos-Gorczyca,A., Kapinos,M., Jarosz,A.,
            Grzeszczak,W., Gorczynska-Kosiorz,S. and Niemiec,P.
  TITLE     Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4
            Gene Polymorphisms and Autism in Polish Population
  JOURNAL   J Autism Dev Disord 52 (10), 4213-4218 (2022)
   PUBMED   34562210
  REMARK    GeneRIF: Family-Based Cohort Association Study of PRKCB1, CBLN1 and
            KCNMB4 Gene Polymorphisms and Autism in Polish Population.
REFERENCE   2  (bases 1 to 2442)
  AUTHORS   Guler,O., Ozer,A., Seyithanoglu,M., Yaman,F.N. and Sahpaz
            Kursun,H.N.
  TITLE     Serum amphiregulin and cerebellin-1 levels in severe preeclampsia
  JOURNAL   J Matern Fetal Neonatal Med 34 (17), 2863-2868 (2021)
   PUBMED   31630583
  REMARK    GeneRIF: Serum amphiregulin and cerebellin-1 levels in severe
            preeclampsia.
REFERENCE   3  (bases 1 to 2442)
  AUTHORS   Elegheert,J., Kakegawa,W., Clay,J.E., Shanks,N.F., Behiels,E.,
            Matsuda,K., Kohda,K., Miura,E., Rossmann,M., Mitakidis,N.,
            Motohashi,J., Chang,V.T., Siebold,C., Greger,I.H., Nakagawa,T.,
            Yuzaki,M. and Aricescu,A.R.
  TITLE     Structural basis for integration of GluD receptors within synaptic
            organizer complexes
  JOURNAL   Science 353 (6296), 295-299 (2016)
   PUBMED   27418511
REFERENCE   4  (bases 1 to 2442)
  AUTHORS   Naba,A., Clauser,K.R., Whittaker,C.A., Carr,S.A., Tanabe,K.K. and
            Hynes,R.O.
  TITLE     Extracellular matrix signatures of human primary metastatic colon
            cancers and their metastases to liver
  JOURNAL   BMC Cancer 14, 518 (2014)
   PUBMED   25037231
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2442)
  AUTHORS   Jones,R.M., Cadby,G., Melton,P.E., Abraham,L.J., Whitehouse,A.J.
            and Moses,E.K.
  TITLE     Genome-wide association study of autistic-like traits in a general
            population study of young adults
  JOURNAL   Front Hum Neurosci 7, 658 (2013)
   PUBMED   24133439
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2442)
  AUTHORS   Albertin,G., Malendowicz,L.K., Macchi,C., Markowska,A. and
            Nussdorfer,G.G.
  TITLE     Cerebellin stimulates the secretory activity of the rat adrenal
            gland: in vitro and in vivo studies
  JOURNAL   Neuropeptides 34 (1), 7-11 (2000)
   PUBMED   10688962
REFERENCE   7  (bases 1 to 2442)
  AUTHORS   Mazzocchi,G., Andreis,P.G., De Caro,R., Aragona,F., Gottardo,L. and
            Nussdorfer,G.G.
  TITLE     Cerebellin enhances in vitro secretory activity of human adrenal
            gland
  JOURNAL   J Clin Endocrinol Metab 84 (2), 632-635 (1999)
   PUBMED   10022429
REFERENCE   8  (bases 1 to 2442)
  AUTHORS   Kavety,B., Jenkins,N.A., Fletcher,C.F., Copeland,N.G. and
            Morgan,J.I.
  TITLE     Genomic structure and mapping of precerebellin and a
            precerebellin-related gene
  JOURNAL   Brain Res Mol Brain Res 27 (1), 152-156 (1994)
   PUBMED   7877445
REFERENCE   9  (bases 1 to 2442)
  AUTHORS   Urade,Y., Oberdick,J., Molinar-Rode,R. and Morgan,J.I.
  TITLE     Precerebellin is a cerebellum-specific protein with similarity to
            the globular domain of complement C1q B chain
  JOURNAL   Proc Natl Acad Sci U S A 88 (3), 1069-1073 (1991)
   PUBMED   1704129
REFERENCE   10 (bases 1 to 2442)
  AUTHORS   Yiangou,Y., Burnet,P., Nikou,G., Chrysanthou,B.J. and Bloom,S.R.
  TITLE     Purification and characterisation of cerebellins from human and
            porcine cerebellum
  JOURNAL   J Neurochem 53 (3), 886-889 (1989)
   PUBMED   2760624
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007614.7 and M58583.1.
            
            On Nov 23, 2018 this sequence version replaced NM_004352.3.
            
            Summary: This gene encodes a cerebellum-specific precursor protein,
            precerebellin, with similarity to the globular (non-collagen-like)
            domain of complement component C1qB. Precerebellin is processed to
            give rise to several derivatives, including the hexadecapeptide,
            cerebellin, which is highly enriched in postsynaptic structures of
            Purkinje cells. Cerebellin has also been found in human and rat
            adrenals, where it has been shown to enhance the secretory activity
            of this gland. [provided by RefSeq, Aug 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1141237.1,
                                           SRR3476690.238601.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000219197.11/ ENSP00000219197.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-363               AC007614.7         149939-150301
            364-1334            M58583.1           305-1275
            1335-2442           AC007614.7         152753-153860
FEATURES             Location/Qualifiers
     source          1..2442
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.1"
     gene            1..2442
                     /gene="CBLN1"
                     /note="cerebellin 1 precursor"
                     /db_xref="GeneID:869"
                     /db_xref="HGNC:HGNC:1543"
                     /db_xref="MIM:600432"
     exon            1..637
                     /gene="CBLN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             374..955
                     /gene="CBLN1"
                     /note="cerebellin-1; precerebellin"
                     /codon_start=1
                     /product="cerebellin-1 precursor"
                     /protein_id="NP_004343.1"
                     /db_xref="CCDS:CCDS10736.1"
                     /db_xref="GeneID:869"
                     /db_xref="HGNC:HGNC:1543"
                     /db_xref="MIM:600432"
                     /translation="MLGVLELLLLGAAWLAGPARGQNETEPIVLEGKCLVVCDSNPTS
                     DPTGTALGISVRSGSAKVAFSAIRSTNHEPSEMSNRTMIIYFDQVLVNIGNNFDSERS
                     TFIAPRKGIYSFNFHVVKVYNRQTIQVSLMLNGWPVISAFAGDQDVTREAASNGVLIQ
                     MEKGDRAYLKLERGNLMGGWKYSTFSGFLVFPL"
     exon            638..757
                     /gene="CBLN1"
                     /inference="alignment:Splign:2.1.0"
     exon            758..2442
                     /gene="CBLN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1812..1817
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBLN1"
                     /note="hexamer: AATAAA"
     polyA_site      1835
                     /gene="CBLN1"
                     /note="major polyA site"
     regulatory      2415..2420
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBLN1"
                     /note="hexamer: AATAAA"
     polyA_site      2442
                     /gene="CBLN1"
ORIGIN      
        1 ctccgcccgc tccggctgca gcgccggctg catcaataat tcagagcggc ggcggcggcg
       61 gcagcggcgg gtgcgggcag gaggcggcgg cagcagcggg accgagcagc agcggctatg
      121 catccaagtg cggctgggca gccgcggcac ccctgaggcc cgggaggggc tccgggaaca
      181 cagcgcggag gggacgctag tcgcggaggg gacgctagtc ccggagtgcg aggaagaggt
      241 gtagtgtcca gagcggcggc ggcggagctg cgcacggagc tgaggagggg gcttcggagc
      301 gggactggga cggggggggc ggctggcgcg agcagccctg ggggtggggg gcggggtggg
      361 cgccggcggc gcgatgctgg gcgtcctgga gctgctgctg ctgggggctg cgtggctggc
      421 gggcccggcc cgcgggcaga atgagacgga gcccatcgtg ctggagggca agtgcctggt
      481 ggtgtgcgac tccaacccca cgtccgaccc cacgggcact gccctgggca tctctgtgcg
      541 ctctggcagc gccaaggtgg ctttctctgc catcaggagc accaaccacg agccgtccga
      601 gatgagtaat cgcaccatga tcatctactt cgaccaggta ctagtgaaca ttgggaacaa
      661 ctttgattca gaacgcagca ctttcatcgc cccgcgcaaa gggatctaca gttttaactt
      721 ccacgtggta aaagtctaca acagacaaac catacaggtg agcctcatgc taaacgggtg
      781 gccggtgatt tcagccttcg ctggtgacca ggacgtgacc cgggaggccg ccagcaacgg
      841 agtcctaatc caaatggaga aaggcgaccg agcatacctc aagctggagc ggggaaactt
      901 gatggggggc tggaagtact cgaccttctc cggattcctg gtgtttcctc tctgactggc
      961 tcgtagccgg aagggaggca gggagagggc gaaggcagga aggggagtga gaaagaggct
     1021 gaaattaaga gggcgagaaa gcagcacgac ttgaaacttc ctacatgttc tctaactgta
     1081 tctgggtaaa aaggtgcgcg ccagctgtgg gacaactttg tccatttcct tattaggaga
     1141 aataaatttc gcttagctct gcgcactccc atttccaaaa ataaactcgc ctcccccatt
     1201 ccagttgcag taatcaagaa agagactgcc ttgtcattgt ttcttatccc ccaacttcat
     1261 gttccctgca atttatttaa agaaactttg tatttcacta cataatctga aatctttctc
     1321 cctagccccc tctgaatcct tctgcctact gaaatctgat atattacaca cccccaacct
     1381 tttttttttc agtttggaaa ggggtaaagt tttgttgttg ttgttgtttt gttttggatg
     1441 gggaaggtag ttttaatttg gcaagtgttg ctcttcttaa aacactgctc aaattaatta
     1501 gctgaagata cttagtatcc tcggctgctt gttagcagag aaaggactca ccttagtggt
     1561 gactggttta aaaaatataa atatatatca tttgtatacg aagaactctt cccagtggaa
     1621 actggctgtg tttccgtatt tctatgttct attcggagtg atcgtgaaat ctaaggctgc
     1681 ttgatgttct gatgcttgtc aatgccgtcg tgctctgtga ctccacgaaa cgccaaggag
     1741 cttcttccgg acgcctcctc ttcctctgta acatacgtgt gaatagtcaa ggtttaattt
     1801 tgctttaatc taataaagtc gaagtgggac ttttattttt ctgaaacagc tttctaaaat
     1861 ccgcatcttc cccagctgcg aggttggggg tctggggtgc caaagggcga ggttccgaaa
     1921 ggcaggagac ttgggggaac gcaaccatag aaaggcctgg gcgcgagggc ttccttgcaa
     1981 agccggcctt gcgctccttc ctgcgccagg ccggggacca gcactgcatt cgcctgtgtt
     2041 cacagctttg gcggaaacgt aagaaatgtg gccgaaatct tgctaggcca ggcgcggccg
     2101 ccggcccagg agcgaagttt gatttttttc tttgcattcc aaatgcatca ggaatagtcc
     2161 cagtttgagg acccaaacga ccctgcctgg agcggcagac tcctcaggcc ttctgtcccc
     2221 ggatgtctcc caccgcgtcc ccctcgcagt tcccgaagca gcgtatgttt tatacaccgc
     2281 ctctgaatcc ggagtccacc cgccgcatac tcgggcgccc aggacctatg attccgctca
     2341 ttcacaggac tttattcaag aggttcgtcc aggagttttg attgtatcgg aacataatgt
     2401 gaaagcaaaa atgaaataaa cgacttcgtt ttaagtctga aa
//
